The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Hepatomegaly | Very frequent (present in 80%-99% of cases) |
| Hypotrichosis of the scalp | Very frequent (present in 80%-99% of cases) |
| Ichthyosis | Very frequent (present in 80%-99% of cases) |
| Jaundice | Very frequent (present in 80%-99% of cases) |
| Scarring alopecia of scalp | Very frequent (present in 80%-99% of cases) |
| Sparse and thin eyebrow | Very frequent (present in 80%-99% of cases) |
| Sparse body hair | Very frequent (present in 80%-99% of cases) |
| Sparse eyelashes | Very frequent (present in 80%-99% of cases) |
| Splenomegaly | Very frequent (present in 80%-99% of cases) |
| Abnormality of dental enamel | Occasional (present in 5%-29% of cases) |
| Acanthosis nigricans | Occasional (present in 5%-29% of cases) |
| Hypodontia | Occasional (present in 5%-29% of cases) |
| Oligodontia | Occasional (present in 5%-29% of cases) |
| Portal hypertension | Occasional (present in 5%-29% of cases) |
| Abnormality of blood and blood-forming tissues | - |
| Alopecia | - |
| Autosomal recessive inheritance | - |
| Cholangitis | - |
| Dry skin | - |
| Hypoplasia of dental enamel | - |
| Hypotrichosis | - |
| Orthokeratosis | - |
| Parakeratosis | - |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Pediatric Dermatology Research Alliance (PeDRA) Annual Conference
Friday, October 18, 2013 -
Sunday, October 20, 2013
Location: Westin O’Hare Hotel ,
Rosemont,
IL
Description: The goals of the PEDRA annual meetings are to provide an educational platform that will enhance the research skills of PeDRA investigators and establish a forum for the critical review of research proposals developed by PeDRA disease-focused groups and to create a bridge between basic scientists and clinicians to enhance opportunities for research. Each group will identify and prioritize the clinical needs and therapeutic opportunities.
Contact: Carl C. Baker(301) 435-1240
Co-funding Institute(s): National Institute of Arthritis and Musculoskeletal and Skin Diseases, Office of Rare Diseases Research
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